Canonical Allele Identifier: CA10651145

Gene: SEPTIN9

Linked Data

• ClinVar Variation Id: 325535
• ClinVar RCV Id: RCV000270435 ; RCV003422292
• dbSNP Id: rs372287642
• gnomAD v2: 17-75316291-AGAGGAG-A
• gnomAD v3: 17-77320209-AGAGGAG-A
• gnomAD v4: 17-77320209-AGAGGAG-A
• MyVariant Identifiers: chr17:g.75316311_75316316del (hg19) ; chr17:g.75316292_75316297del (hg19) ; chr17:g.77320229_77320234del (hg38) ; chr17:g.77320210_77320215del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.77320229_77320234del , CM000679.2:g.77320229_77320234del	GRCh38
NC_000017.10:g.75316311_75316316del , CM000679.1:g.75316311_75316316del	GRCh37
NC_000017.9:g.72827906_72827911del	NCBI36
NG_011683.1:g.43820_43825del
NG_011683.2:g.43820_43825del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329047.13:c.-98_-93del MANE Plus Clinical	ENSP00000329161.8:n.-98_-93del
ENST00000427177.6:c.76+13032_76+13037del MANE Select	ENSP00000391249.1:n.76+13032_76+13037del
ENST00000329047.12:c.-98_-93del	ENSP00000329161.8:n.-98_-93del
ENST00000427177.5:c.76+13032_76+13037del	ENSP00000391249.1:n.76+13032_76+13037del
ENST00000431235.6:c.-417+13032_-417+13037del	ENSP00000406987.2:n.-417+13032_-417+13037del
ENST00000449803.6:c.-417+13032_-417+13037del	ENSP00000400181.2:n.-417+13032_-417+13037del
ENST00000587237.1:n.406+13032_406+13037del
ENST00000588575.1:c.36+426_36+431del	ENSP00000468090.1:n.36+426_36+431del
ENST00000589070.1:c.31+39423_31+39428del	ENSP00000465332.1:n.31+39423_31+39428del
ENST00000590294.5:c.-98_-93del	ENSP00000465464.1:n.-98_-93del
ENST00000590576.5:c.*76+13032_*76+13037del	ENSP00000465600.1:n.*76+13032_*76+13037del
ENST00000590595.1:c.36+426_36+431del	ENSP00000465026.1:n.36+426_36+431del
ENST00000591198.5:c.19+38675_19+38680del	ENSP00000468406.1:n.19+38675_19+38680del
ENST00000591833.5:c.*71+13032_*71+13037del	ENSP00000466684.1:n.*71+13032_*71+13037del
NM_001113491.1:c.76+13032_76+13037del	NP_001106963.1:n.76+13032_76+13037del
NM_001113492.1:c.-417+13032_-417+13037del	NP_001106964.1:n.-417+13032_-417+13037del
NM_001293695.1:c.19+38675_19+38680del	NP_001280624.1:n.19+38675_19+38680del
NM_006640.4:c.-98_-93del	NP_006631.2:n.-98_-93del
XM_006721643.2:c.-417+13032_-417+13037del	XP_006721706.1:n.-417+13032_-417+13037del
XM_011524204.1:c.169+13032_169+13037del	XP_011522506.1:n.169+13032_169+13037del
XM_011524205.1:c.166+13032_166+13037del	XP_011522507.1:n.166+13032_166+13037del
NM_001113491.2:c.76+13032_76+13037del MANE Select	NP_001106963.1:n.76+13032_76+13037del
NM_001293695.2:c.19+38675_19+38680del	NP_001280624.1:n.19+38675_19+38680del
NM_001113492.2:c.-417+13032_-417+13037del	NP_001106964.1:n.-417+13032_-417+13037del
NM_006640.5:c.-98_-93del MANE Plus Clinical	NP_006631.2:n.-98_-93del